title: X-linked lymphoproliferative syndromes and related autosomal recessive disorders.
abstract: OBJECTIVE
  X-linked lymphoproliferative (XLP) syndromes and related autosomal disorders are severe primary immune deficiencies triggered by infection with Epstein-Barr virus (EBV), the causative agent of infectious mononucleosis. Recent findings reviewed herein provided key new insights into the genetic and immunological basis of these diseases. They also improved our comprehension of the immunological mechanisms controlling EBV infection.
  
  
  RESULTS
  Mutations of an X-linked gene, SH2D1A, which encodes the signaling lymphocytic activation molecule (SLAM)-associated protein (SAP), are responsible for most cases of XLP disorders. More recently, other genetic causes for XLP syndromes and autosomal recessive variants of this disease were elucidated. Mutations in genes such as XIAP, ITK, and CD27 were identified. The clinical manifestations and immunological defects seen in these patients were characterized.
  
  
  CONCLUSIONS
  The similarities and differences in immunological defects and clinical manifestations between XLP syndromes and related autosomal recessive disorders enabled important new insights into the pathogenesis of these diseases. They also helped our comprehension of the mechanisms implicated in the control of EBV infection. They suggested that CD8+ T cells, natural killer (NK) cells, and NKT cells are critically involved.
authors.affiliation: aLaboratory of Molecular Oncology, Clinical Research Institute of Montréal bDepartment of Medicine, University of Montréal cDepartment of Medicine, McGill University, Montréal, Québec, Canada dUnité INSERM 768, Laboratoire du Développement Normal et Pathologique du Système Immunitaire, Hôpital Necker Enfants-Malades, Paris, France.
authors.forename: André
authors.initials: A
authors.lastname: Veillette
authors.forename: Luis-Alberto
authors.initials: LA
authors.lastname: Pérez-Quintero
authors.forename: Sylvain
authors.initials: S
authors.lastname: Latour
mesh_terms: D018414:CD8-Positive T-Lymphocytes / Q000276:immunology / Q000473:pathology; D030342:Genetic Diseases, Inborn / Q000235:genetics / Q000276:immunology / Q000473:pathology; D004854:Herpesvirus 4, Human / Q000235:genetics / Q000276:immunology; D006801:Humans; D007244:Infectious Mononucleosis / Q000235:genetics / Q000276:immunology / Q000473:pathology; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics / Q000276:immunology; D007694:Killer Cells, Natural / Q000276:immunology / Q000473:pathology; D008232:Lymphoproliferative Disorders / Q000235:genetics / Q000276:immunology / Q000473:pathology; D009154:Mutation; D055611:Natural Killer T-Cells / Q000276:immunology / Q000473:pathology; D011505:Protein-Tyrosine Kinases / Q000235:genetics / Q000276:immunology; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein; D018127:Tumor Necrosis Factor Receptor Superfamily, Member 7 / Q000235:genetics / Q000276:immunology; D051636:X-Linked Inhibitor of Apoptosis Protein / Q000235:genetics / Q000276:immunology
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C114953:SH2D1A protein, human; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein; D018127:Tumor Necrosis Factor Receptor Superfamily, Member 7; D051636:X-Linked Inhibitor of Apoptosis Protein; C496866:XIAP protein, human; D011505:Protein-Tyrosine Kinases; C080813:emt protein-tyrosine kinase